Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57265361-57265483	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000258679	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10876942	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11172003	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172021	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172022	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172026	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172038	0.90[ASN][1000 genomes]
rs11172046	0.87[ASN][1000 genomes]
rs11613486	0.90[ASN][1000 genomes]
rs4237807	0.90[ASN][1000 genomes]
rs4415812	0.87[ASN][1000 genomes]
rs4435043	0.90[ASN][1000 genomes]
rs4477472	0.90[ASN][1000 genomes]
rs4759035	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs4759261	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4759262	0.90[ASN][1000 genomes]
rs4759266	0.90[ASN][1000 genomes]
rs61937853	1.00[ASN][1000 genomes]
rs7295197	0.90[ASN][1000 genomes]
rs7307358	0.90[ASN][1000 genomes]
rs7311658	0.90[ASN][1000 genomes]
rs7954692	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4759260	TENC1	cis	parietal	SCAN
rs4759260	NCKAP1L	cis	parietal	SCAN
rs4759260	RDH16	cis	cerebellum	SCAN
rs4759260	GPR84	cis	parietal	SCAN
rs4759260	KRT80	cis	cerebellum	SCAN

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57264600-57265400	Enhancers	Liver	Liver

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